Associated Papers
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.
Du K et al.
Cerebellum (london, England), 2026
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.
Hanson J et al.
Neurology International, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.
Hanson J et al.
Molecular Genetics and Metabolism, 2025
Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.
Yahalom C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka M et al.
Clinical Genetics, 2022
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.
Jiang J et al.
Frontiers in Genetics, 2020
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Tao QQ et al.
Orphanet Journal of Rare Diseases, 2019
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
Jiao H et al.
Journal of Internal Medicine, 2018
Psychiatric manifestations in cerebrotendinous xanthomatosis.
Fraidakis MJ
Translational Psychiatry, 2013
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
Pilo-de-la-Fuente B et al.
European Journal of Neurology, 2011
[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis].
Pilo de la Fuente B et al.
Neurologia (barcelona, Spain), 2011
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B et al.
Muscle & Nerve, 2011
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Gallus GN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
Lionnet C et al.
Revue Neurologique, 0